Autosomal dominant hereditary disorder
Spinocerebellar ataxia
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Spinocerebellar ataxia type 30 (disorder)
Spinocerebellar ataxia type 30
A rare disease with characteristics of slowly progressive and relatively pure ataxia described in 6 patients from one Australian family to date. The disease presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rare manifestations include gaze-evoked nystagmus and dystonia. The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1.
spinocerebellaire ataxie type 30
SCA30
Id719253007
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.2
RuleTRUE
AdviceALWAYS G11.2
CorrelationSNOMED CT source code to target map code correlation not specified